Mason and his Mum, Bec first started working with Early Links in 2023.
Soon after commencing supports, Rachel (Mason’s Speech Pathologist) noticed Mason was exhibiting several neurological symptoms that could not be explained by his medical or developmental history. Mason had no complications during gestation or birth, and his childhood had been free from injuries or illnesses.
When these concerns were brought to Bec, they were met with a sigh of relief. Bec had been voicing these concerns for years yet felt that nobody had listened.
Lauren (Mason’s Physiotherapist) and Raphaela (Mason’s Occupational Therapist) soon joined the team and immediately echoed these concerns – something needed to be done. Mason was quickly referred to an array of medical professionals for further testing, however, all the scans and specialist visits provided no further answers, with Mason’s presentation labelled a developmental delay. This answer was not consistent with what his family and therapists had seen.
Mason’s team continued to advocate for more, attending specialist appointments, requesting follow ups, writing letters and providing copious amounts of video evidence to support their concerns; until Mason was finally referred for genetic testing.
Within a few months, the genetic testing was complete, and they had found the answer. Mason was diagnosed with a rare genetic mutation which resulted in cerebellar dysfunction; a non-progressive condition that could explain ALL of his symptoms. This discovery was so new and the mutation so rare, that there are only around 50 documented cases, IN THE WORLD!
Mason does not require long-term specialist care and has been advised that the most beneficial course of action would be ongoing supports with his therapy team. Mason, his family and the team were beyond relieved. The therapy team are excited to continue supporting Mason and his family with this journey and look forward to seeing what his bright future holds!
This is Mason’s individual journey. Each child’s experience is different, and outcomes may vary.
For more information on Early Links, visit earlylinks.org.au
